A Case of Neurofibromatosis Type 1 Complicated with Repeated Intracerebral Hemorrhage due to Quasi-Moyamoya Disease

Moyamoya disease (MMD) is a unique occlusive disease of the bilateral internal carotid arteries with moyamoya vessels. Inherited or acquired disorders and conditions may present in conjunction with MMD. This condition is known as quasi-MMD. We report a case of quasi-MMD complicated with repeated intracerebral hemorrhage during long-term follow-up for cerebral ischemia. A 35-year-old woman who had a diagnosis of neurofibromatosis type 1 visited our hospital because of incidentally found cerebral infarction. Angiography showed occlusive changes in the distal portion of the bilateral internal carotid artery and multiple massive collateral arteries from occluded internal carotid artery. Because revascularization from external carotid artery systems developed, she was treated conservatively and followed annually with radiologic study. During follow-up, she suffered from minor intracerebral hemorrhages. At the age of 55 years, she died of massive intracerebral hemorrhages. Although the intracerebral hemorrhage is not common in quasi-MMD, it has a potential to be fatal. Long-term follow-up with radiologic study and proper surgical treatment is required.